TP53 NM_000546.6 Transcript Genomic ↻ Fetching transcript structure from UCSC… Exons— Transcript span— Strand— Variants mapped— SourceUCSC ncbiRefSeqCurated All variants in TP53 — click a row to locate it on the plot · use the link column to open its page Variant ↕ Protein Location Classification Link
Met Not met Not assessed N/A Strength very strong supporting Pathogenic evidence PVS PS PM PP Benign evidence BA BS BP — — Needs human review — RationaleSelect a criterion. Sources Evidence used Gaps remaining Rule—
Population frequency gnomAD v4.1 gnomAD v2.1 v4.1 Absent from gnomAD v4.1. Copy v2.1 Absent from gnomAD v2.1. Copy 🇨🇦 CA Absent from gnomAD-Canada v1.0. Copy Allele frequency by ancestry three datasets · side by side gnomAD v4.1 Absent · 0 / ? 0 hom Not observed in any ancestry group. gnomAD v2.1 Absent · 0 / ? 0 hom Not observed in any ancestry group. gnomAD Canada 🇨🇦 Absent · 0 / ? 0 hom Not observed in any ancestry group. gnomAD v4 ↗ gnomAD v2 ↗ gnomAD 🇨🇦 ↗ ClinVar In progress — evidence not uploaded yet. Copy ClinVar ↗ In silico In progress — evidence not uploaded yet. Copy SpliceAI ↗ Functional In progress — evidence not uploaded yet. Copy OncoKB ↗ COSMIC Somatic evidence COSMIC In progress — evidence not uploaded yet. Hotspots This variant does not lie in a statistically significant cancer hotspot. Copy both COSMIC ↗ Sources & reference links 8Sources CSpec VCEP ClinVar gnomAD v2.1 gnomAD v4.1 gnomAD-Canada SpliceAI OncoKB COSMIC